A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396734



Internal ID176148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42265963..42266014hg38UCSC Ensembl
chr1:42731634..42731685hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904823
Samples
Known GenesFOXJ3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396734
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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